Genetics Flashcards

Question 1

Q

Terms

Heteroplasmy
Variable expression
Incomplete penetrance
Loss heterozygosity
Imprinting
Pleiotropy
Anticipation
Mosaicism

Answer

A

we have 2 types gnetic material, nuclear DNA and mito DNA
2 people with same mutation look differently
even though genotype shows mutation not everyone shows it phenotypically
need 2 mutations in order to become dangerous -> CA
one chromosome is silenced and other chromosome has mutation
one mutation presents with problems in multiple systems (marfans)
severity of dx is worse and age of presentation is earlier with each generation
not all cells have the mutation, so some cells normal and others have problem

Question 2

Q

How to figure out pedigree

affect mult gen w/ male to male transmission
affect mult gen w/o male to male transmission and males pass to all daughters
does not affect all gen and affects both males and females
does not affect all gen and affects mostly males
all children of affected female have it but none of the children from affected male have it

Answer

A

auto dom
X-linked dom
auto recessive
X-linked recessive
mitochondrial

Question 3

Q

AD characteristics

what is affected?
generations affected?
onset

Answer

A

structural proteins
all
late

Question 4

Q

AR characteristics

what is affected
onset
generations affected?

Answer

A

enzymes
early
skips

Question 5

Q

XLR characteristics

pts at risk
transmission
generations

Answer

A

male bc only have one X so not as protected as females
no male to male transmission
skips

Question 6

Q

XLD characteristics

pts at risk
transmission
generations

Answer

A

male
no male to male, but a;; male pass to daughters and all females can pass to daughters and sons
does not skip generations

Question 7

Q

Mito inhertiance

who is affected
sxs

Answer

A

all children of affected female but no children of affected male
neuropathies and myopathies

Question 8

Q

Auto Dom DX

Very (2)
Powerful
Likable
ReSpectable
D
O (2)
M
I
N
A (2)
N
T (2)
Humans (7)
get Jobs

Answer

A

Von willdebrand and Von Hippel
Pseudo hypoparathyroidism
Li-Fraumeni
RB, Sturge Weber
Dystrophia myotonica
Osteo imperfects and Osler weber
Marfans
Intermittent porphyria
Neurofibromatosis
Achondroplasia and Adult polycystic kidney
Noonan syndrome
Tuberous scelrosis, tremor
Hypercholesterol, HCM, Hereditary spherocytosis, hereditary non polyposis, hereditary hemmorrhagic telangectasia, Huntingtons, Hypokalemic periodic paralysis
Job syndrome

Question 9

Q

Job syndrome

also known as
gene
problem
sxs (FATED)
skeleton sxs

Answer

A

Hyper IgE
STAT3
decrease INF gamma by Th1
coarse face, abcess, teeth, high IgE, derm problems (eczema)
scoliosis and osteopenia

Question 10

Q

Li Fraumeni Syndrome

what is it
caused by
inheritance
sxs
family hx
types

Answer

A

genetic predisposition to early dev of CA
mutation in p53 -> allows for progression to S phase even w/ DNA damage
one mutant allele and then damage to 2nd allele
development of malignant tumors in people younger than 45
mult CA in ppl younger than 45
breast, adrenal, brain, blood

Question 11

Q

Acute Intermittent Porphyria

what is it
caused by
sxs
precipitated by

Answer

A

heme production disturbed
phorphobilinogen deaminase deficiency
abd pain, peripheral neuropathy, CNS signs, port wine urine, w/o rash
drugs

Question 12

Q

Von Hippel Lindau

gene
causes
DX
management

Answer

A

VHL gene
accumulation of HIF-1a which is usually made when hypoxic and increases EPO and VEGF
family history + hemangioblastoma OR renal cell carcinoma
routine screening for tumors w/ early recognition and symptomatic tx

Question 13

Q

Von Willebrand

what is it
types 1,2,3
chrom
pathway
sxs
DX
TX for 1 and 2a
TX for 2b and 3

Answer

A

VWF deficiency
1: AD, quantitative defect; 2a: AD, qualitative defect; 2b: hyperbinding of vWF to platelet; 3: AR, absence of vWF
12
vWF from endo cannot bind onto GpIb to allow for platelet yo expose GpIIb-IIIa for binding to other platelets to create platelet meshwork
superficial bleeding (nose, bleeding gum, heavy period, easy bruising)
measure quantity of vWF with assay, measure function of vWF with Ristocetin assay (only causes aggregation in presence of vWF),
Desmopressin -> stimulates release of vWF from weibel palade bodies of endo cells

Question 14

Q

Essential tremor

worsens
commonly located in
classically improved by
management

Answer

A

w/ activity
UE
EtOH consumption
propanolol -> beta blocker -> decrease muscle responding

Question 15

Q

Retinoblastoma

what is it
mutation
pathway
screening
sxs

Answer

A

retinal CA
mutation of RB1 on chrom 13
RB continuously phosphorylated by CDk2-cyclin A complex causing it to stop inhibiting E2F and allowing for continuation of cell cycle from G1 to S
red reflex
leukocoria, decrease in vision, irritation of eye, glaucoma, strabisumus

Question 16

Q

Marfans

mutation of
protein affected
heart findings
lung complications
spine complications
pehno sxs
eye complications
marfanoid syndromes

Answer

A

Fb1 on chrom 15
fibrillin-1 glycoprotein -> part of ECM and causes abnormal elastin
thoracic aortic aneursym
spontaneous pneumo
dural ectasia -> weakened dural sac that causes back pain
tall, arachnodactyly,
lens dislocation
homocysteinuria, ehler danlos, sticklers (flat face, myopia, cleft palate), MEN2b

Question 17

Q

Osteogenesis Imperfecta

what is it
biochem problem
sxs

Answer

A

deficiency of type 1 collagen causing bone fragility
glycine replaced with bulky AA
bone fragility, loose joints, poor muscle tone, blue sclera

Question 18

Q

Osler- Weber- Rendu

also known as
causes

Answer

A

hereditary hemmorrhagic telangiectasia
blood vessel disorder in skin, mucous membranes of lips/ oronasopharynx/ resp tract / GI tract/ GU tract/ brain/ liver/ spleen

Question 19

Q

Familial Hypercholesterolemia

mutation of
location
findings
high risk of
family hx

Answer

A

LDLR gene
chrom 19
xanthelasma and thendon xanthomas
CAD, MI
healthy family w/ members who have died young from MI

Question 20

Q

Huntingtons

What is it, gene affected, chromosome
what AA
causes
gross
sxs

Answer

A

Tri nuc repeat of CAG on HTT gene on chrom 4
CAG codes for glutamine
repressed / silenced transcription of other genes
caudate atrophy
chorea (writhing motion), abnrml facial expressions and inability to stop and start actions, aggression, depression, loss of cognitive planning and thinking and memory

Question 21

Q

Hypokalemic periodic paralysis

caused by
type 1: type of channel, chrom
type 2: type of channel, chrom
sxs
location
when
trigger
tx

Answer

A

rapid drops in blood potassium
CACNA1S voltage gated Ca channel in T tubule, chrom 1
SCN4A voltage gated Na channel in NMJ, chrom 17
muscle weakness and transient paralysis (hours to days)
hips or shoulders
begin in adolescence and occurs after exercise
EtOH and high carb/ Na meals
focus on preventing future attacks and avoid triggers

Question 22

Q

Achondroplasia

caused by
sxs

Answer

A

glycine replaced with arginine in FGFR3 gene

- frontal and parietal bossing, short nose, normal torso length w/ short limbs

Question 23

Q

Adult Polycystic Kidney Dx

presents
mutations
sxs

Answer

A

between 30 and 40 yrs old
PKD1 (chrom 16, reg of cell cylce and Ca transport in epi cells), PKD2, PKD3
back pain, UTI, renal colic, nephrolithiasis and cysts on kidneys

Question 24

Q

Hereditary Spherocytosis

caused by
shape
MCHC
RDW
Osmotic fragility

Answer

A

mutation in ankyrin which attaches proteins to apectrin membrane skeleton
sphere shaped RBS w/o central pallor
MCHC: concentration of hemoglobin in RBC -> increased
RDW: variation in size of RBC -> increased bc have variable sizes of RBC in this dx
RBC will lyse under stress from water pulling on their membranes

Question 25

Q

Sturge- Weber syndrome

type of disorder
gene
caused by
skin sxs
neuro sxs
ocular sxs

Answer

A

neuro- oculo- cutaneous syndrome
GNAQ gene - chrom 9
embryo developmental anomaly and malformation of blood vessels in pia mater
port wine stain on forehead or upper eyelid on one side of face
seizure in infancy w/ muscle weakness on side of body opp bithmark; developmental and cognitive delay
50% will have glaucoma

Question 26

Q

Tuberous Sclerosis

what is it
mutation of
causes
needs
location
sxs

Answer

A

multi- organ disorder that allows for non-malignant tumors to grow abundantly
TSC1 and TSC2 -> Hamartin and tuberin
Hamartia (malformed issue) and Hamartomas (benign growth)
1 inherited copy and other mutated copy
heart, kidney, eye, lung, skin, brain
seizures, developmental difficulties, autism, ash leaf spot (hypomelanin)

Question 27

Q

Schwannoma

other name
location
c8 compression
c7 compression
c5 compression
increased risk of

Answer

A

Neurofibromatosis 2
cerebellopontine angle
can cause cochlear (sensorineural hearing loss) or vestibular problems (vertigo, nystagmus)
paralysis of facial expression muscles and taste in ant 2/3 tongue
loss sensation around mouth, nose, and corneal reflex, w/ paralysis of muscles of mastication
meningioma and ependymomas

Question 28

Q

Myotonic Dystophy

what is it
type disorder
main problem
other problems
type 1: name, gene, chrom, repeat, location, prognosis, characteristics, endo problems
type 2: name, gene, chrom, repeat, location, systemic disorders

Answer

A

chronic, slowly progressive muscle disease
Tri nuc repeat (CTG)
progressive wasting and weakness of muscles w/ prolonged muscle contraction
cardiac, endocrine, visual
severe congenital form, DMPK gene, chrom 19, CTG, muscle weakness in face/ neck/ hands/ lower legs, slowly progresses, long face w/ hanging jaw, DM
proximal myotonic myopathy, CNPB gene, chrom 3, CCTG, muscle weakness in hips/ elbow/ shoulder/ neck, systemic disorder absent

Question 29

Q

Familial Adenomatous Polyposis

gene
findings, what age
sequlae

Answer

A

APC -> normally suppresses tumors
numerous polyps develop from intestine epi in teenage years
polyps will become malignant unless removed

Question 30

Q

Alkaptonuria

deficiency of
mutation of
can’t
build up
findings infant
findings adult
outcome

Answer

A

homogentisic acid oxidase
HGD gene
break down tyrosine and phenylalanine
homogentisic acid
dark urine when standing or when ferric chloride added
arthritis, dark spots on sclera or cornea, dark ear
good

Question 31

Q

Ataxia Telangiectasia

defect in
gene
affects
findings

Answer

A

DNA repair and cell division
ATM
nervous system and immune system
ataxia before 5, chorea, chronic sinopulm infections, increase CA risk (leukemia and lymphoma), telangectasia in eyes and skin, oculomotor apraxia

Question 32

Q

Albinism

caused by
normal function
affects

Answer

A

tyrosinase deficiency
tyrosine -> dopa -> melanin
eye and skin

Question 33

Q

Alpha- 1- antitrypsin def

what is it
type of emphysema
other sxs

Answer

A

loss of protection for liver and lungs from tissue destroying proteases
panacinar
pulm (chronic lung infection, SOB) and hepatic findings

Question 34

Q

Beta Thalassemia

gene, chrom
minor vs major
intermedia

Answer

A

HBB gene on chrom 11
minor is one gene missing (under production of beta chain) and major is both genes missing (severe anemia ensues)
mutation in kozak sequence of beta globin gene w/ hypochromic, microcytic anemia

Question 35

Q

Cystic Fibrosis

mutation
chrom
deletion of
what is normal protein function
leads to in lungs
leads to in glands
leads to in GI
10% experience
bacteria
management

Answer

A

CFTR Delta F508
chrom 7
phenyalanine
ATP transmembrane ion transporter that pumps Cl out of epi cells
increased mucus secretion in lungs with thickened SM
hypertonic fluid in gland w/ salty skin
leads to decreased caloric absorption and decrease in fat-soluble vitamins
rectal prolapse
staph aureus, H influenzae, pseudomonas
maintain lung function by clearing airway of mucus w/ N-acetylcysteine and dornase alpha; controling lung infection; and providing caloric/ nutritional supplementation

Question 36

Q

21- Hydroxylase def

cant make
high
sxs

Answer

A

cortisol or aldosterone
sex hormones
virilization of female and slat wasting for male

Question 37

Q

Chediak higashi syndrome

gene
impairs
effects on lysosome
affects on skin, immuno, neuro

Answer

A

LYST gene
impair lysosomal role
lysosomes become enlarged, disrupted, size, structure and function
causes albinism (ocular and skin), immune system defects (unable to create phagolysosome) and neuro defects (nystagmus and peripheral neuropathy)

Question 38

Q

Dubin Johnson

mutation
leads to
sxs
gross liver

Answer

A

ABCC2 gene codes for MRP2 protein -> normally takes conj bili into the bile duct
high conj hyper bili
dark urine since conj bili is water soluble
liver will be black because of epi metabolites

Question 39

Q

Friedrich Ataxia

kind of mutation, chrom
low levels of
age
cardiac problems
endocrine problems
skeletal problems

Answer

A

tri nuc repeat, GAA ; 9
Frataxin -> mito protein -> nervous tissue destruction in dorsal columns
5-15 yrs
HCM
DM
kyphoscoliosis, pex cavus

Question 40

Q

Galactosuria

gene
deficiency of
causes
sxs
complications
tx

Answer

A

mutation of GALK1 on chrom 17
galactokinase
spilling of galactose in urine
polyuria and polydipsia
cataracts bc of accumulation of galacticol in lens
eliminate lactose and galactose from diet

Question 41

Q

Galactosemia

what is it
leads to
complication
prognosis
tx
dx

Answer

A

deficient of galactose 1 phosphate uridyl transferase
leads to accumulation of galactose 1 phosphate
feeding problems, failure to thrive, liver damage, bleeding
with liver damage will not be able to get rid of ammonia and will lead to sepsis and death
eliminate galactose from diet
part of newborn screening

Question 42

Q

Gauchers dx

type dx
deficient enzyme
leads to
histo
body parts affected
type 1
type 2
type 3

Answer

A

lysosomal storage dx
beta gluco-cerebrosidase
build up of glucocerebroside in cells
crumpled paper macrophages
liver, spleen, kidney, lungs, brain, bone marrow
HSM
HSM, neuro findings, brain damage, death by age 2
slow progressing neuro sxs, live till early adult hood; can try enzyme replacement to prolong life

Question 43

Q

GM1 gangliosidosis

caused by
early infantile
late infantile
adult

Answer

A

def of beta galactosidase
neurodegeneration, seizure, HSM
between 1-3 yrs old; ataxia, seizure
muscle atrophy, less severe and slower neuro findings

Question 44

Q

GM2 gangliosidosis

other name
caused by
sxs
dx
tx
prognosis

Answer

A

Tay sachs
beta hexosaminidase A -> normally in lysosome; lipids accumulate in nervous tissue
cherry red macula, blindness, hearing loss, myoclonus, optic atrophy,
enzyme assays
none
death by 2

Question 45

Q

Hartnups

mutation
chromosome
affects
leads to
findings
mgmnt

Answer

A

SLC6A19
chrom 5
affects absorption of tryptophan
no serotonin, melatonin, niacin
pellagra (dermatitis, diarrhea, dementia, death), ataxia, nystagmus, photosensitivity, increase AA in urine
high protein diet and avoid sunlight and drugs that cause photosensitivity (NSAID, diuretic, quinilone, tetracycline)

Question 46

Q

Hurlers
- kind of dx
- mutation
- build up
-  sxs
therapy
- prognosis

Answer

A

lysosomal storage dx
IDUA gene, chrom 4
build up of GAGs, Heparan and dermatan
umbilical hernia, HSM, dwarfism, large head, blind, deaf
enzyme replacement or gene therapy / stem cell transplant
death by 1st decade of life

Question 47

Q

Hemochromatosis

mutation
causes
stain
sxs
worst case

Answer

A

HFE gene on chrom 6

abnormally high absorption of iron from GI (basolateral surface of small intestine)
prussian blue stain
bronze, diabetes and restrictive cardiomyopathy
liver cirrhosis and HCC

Question 48

Q

Krabbe Dx

mutation
def of
build up of
time frame
sxs
tx

Answer

A

GALC gene on chrom 14
galactocerebrosidase
build up of lipids causes degeneration of myelin sheath
3-6 month after birth
irritable, fever, feeding difficulty, vomiting, seizure
Bone marrow transplant

Question 49

Q

Kartageners Dx

what is it
mutation
sxs

Answer

A

primary ciliary dyskinesia
Dynein protein defect leads to dynein arm defect
pulm infections, situs inversus, infertility ( fallopian tube will not work and sperm does not work)

Question 50

Q

Leukocyte Adhesion Deficiency

absence of
disturbs
signs
key sign

Answer

A

CD 18
formation of integrins which allow for migration of leukocyte from vascular space to tissue
late separation of umbilical cord, poor wound healing, gingival inflammation
will not have pus since PMNs cant get into infection site

Question 51

Q

Maple syrup urine Dx

deficiency
normally does what
which AA
sxs
sequlae
tx

Answer

A

branched chain alpha keto acid DH complex
usually allows for formation of succinyl CoA or acetly CoA from branched chain AA
Leucine, Isoleucine, Valine
sweet smelling urine caused by sotolol; poor feeding, N/V, dehydration
quickly deterioate causing brain damage and cerebral edema and suffer from DKA and hypoglycemia
avoid food with branched chain AA

Question 52

Q

Metachromatic Leukodystrophy

what is it
deficient in
causes
late infantile
juvenile
adult
prognosis

Answer

A

lysosomal storage dx
def arylsulfatase A
altered myelin causing build up of sulfatide in tissue
developmental delay, difficulty walking around 2nd yr of life, muscle weakness
3-10 yrs; poor school performance w/ mental deterioration, dementia
after 16 yrs with psych disturbance that progress to dementia
terminal

Question 53

Q

Sickle Cell

hemolysis
vaso-occlusive
infections

Answer

A

hemolysis: repeated sickling causes premature RBC destruction
vaso-occlusive sx: pain bc of small infarctions (uually in hands and feet)
infections of encapsulated org

Question 54

Q

PKU

deficient in
causes
tx

Answer

A

phenylalanine hydroxylase
cannot convert phenylalanine to tyrosine
decrease phenylalanine from diet and supplement tyrosine

Question 55

Q

Wilsons Dx

what is it
mutation
liver problems
eye problems
heart problems
kidney problems
parathyroid problems
brain problems
tx

Answer

A

toxic accumulation of copper in tissues
ATP7B, chrom 13 -> copper cannot get into ceruloplasmin to be released into plasma and is trapped in liver
cirrhosis
kayser fleischer rings
cardiomyopathy
renal tubular acidosis
parathyroid dysfunction -> hypo parathyoid
accumulates in basal ganglia and causes parkinsonian sxs, seizures, and dementia
chelation with penicillamine

Question 56

Q

X- linked dominant diseases

Answer

A

alport, rett, rickets

Question 57

Q

Alport

mutation
leads to
triad of problems
management

Answer

A

COL4A3, A4, A5
improper production of type 4 collagen
visual problems, deafness, glomerulonephritis
ACE inhibitor for proteinuria and hemodialysis

Question 58

Q

Rett

mutation
epi
normal until
then sxs of
head
pts act
findings
heart sequlae
GI sequelae
skeletal sequelae

Answer

A

MECP2 gene on x chrom
female
6-18 months
development ceases and regression of motor and language abilities
head growth slows
patients begin to act autistic
crying and screaming fits, no social interaction, hand ringing, gait disturbnaces, chorea movements
long QT syndrome -> beta blockers
reflux
scoliosis

Question 59

Q

Ricketts

mutation of
causes
management
male vs female

Answer

A

PHEX on X chrom
peeing out phosphate, and Ca follows
oral phosphate + calcitrol
males bow outward, and females bow inward

Question 60

Q

Ornithine Transcarbamoylase Def

genetic
causes
sxs

Answer

A

x- linked recessive
hyperammonemia bc unable to eliminate urea
newborn unwilling to eat, seizure, cant regulate temp or breathing

Question 61

Q

Red-green color blindness

genetic
caused by

Answer

A

x- linked recessive

- absence of red or green photoreceptors

Question 62

Q

Deuchenne

mutation of
codes for and function
epi
gowers
sequlae
mgmnt
prognosis

Answer

A

dytrophin gene (X p 21)
dystrophin which connects skeleton of each muscle to basal lamina
seen in males before 6 yrs old
crawls hands up legs to straighten torso
progressive loss of walking by 12 and muscle replaced by fatty tissue
steroid, beta 2 agonist, respiratory support
25 yrs old at most

Question 63

Q

Beckers

difference from deuchenne
prognosis

Answer

A

dytrophin is decreased, not absent

- lives till 40

Question 64

Q

Hemo A

genetic
deficient in
bleeding location
DX
TX

Answer

A

XLR
clotting 8
joints, muscles, GI, brain
PTT elevated, PT and bleeding time normal
replenish factor 8

Answer 65

A

XLR
factor 9
deep bleeding
low factor 9, with high PTT and normal PT and bleeding time
infusion of 9

Answer 66

A

200 genes involved
developmental delay or mental retardation
need family hx

Answer 67

A

IL2- RG gene
T cell and NK cell production decreased
candida infection, recurring eczema

Answer 68

A

pentose phosphate shunt which makes NADPH and reduced glutathione
hemolytic anemia since RBC are no longer protected from oxidative stress, pallor, dark urine, SOB, splenomegaly
drugs (anti-malarial, sulfa, nitro, aspirin), fava beans, infections, DKA
indirect hyperbili and anemia
BITE cells, heinz bodies, reticulocytosis

Answer 69

A

lebers hereditary optic neuropathy, DAD, leigh syndrome, MERRF syndrome

Answer 70

A

ND1, ND4, or ND6 on complex 1 of ETC
degeneration of retinal ganglion cells and axons
acute / subacute loss central vision
Idebenone -> electron transporter that helps ETC

Answer 71

A

Diabetes and deafness
LEU-UUR gene that codes for tRNA
Type 1 DM and sensorineural deafness

Answer 72

A

subacute necrotiziing encephalomyopathy
SURF-1 gene -> codes for complex 4 of ETC
infancy, after viral infection
poor sucking, hypotonia, developmental delay or regression
none
radio-dense area on brain

Answer 73

A

MT genes involved
childhood or adolesence
progressive myoclonic epilepsy, ataxia, weakness, lactic acidosis, short, exercise intolerance
Wolff parkinson white syndrome
none

Answer 74

A

Huntingtons
Spinocerebellar ataxia
Friedrich ataxia
Fragile X
Myotonic dystrophy

Answer 75

A

intellectual disability in males
CGG triplet in FMR1 gene
mental retardation, elongated face, large ears, big gonads, mitral valve prolapse

Answer 76

A

45 XO
30%
short, webbed neck, short 4th metcarpal
ovarian dysgenesis (replaced with fat)
horseshoe kidney
coarctation of aorta, bicuspid aortic valve
wont undergo puberty unless given hormones
give growth hormones and sex hormones
can be cadidate for IVF but not likely

Answer 77

A

partial deletion of short arm of chrom 5, monosomy
cat lke cry, outgrow by 2
feeding problem, cognitive / speech / motor delay, lots of drooling, wide eyes

Answer 78

A

extra chrom 13

- low ears, polydactyly, cleft palate, fingers overlap thumb, abd wall defects

Answer 79

A

extra chrom 18
low ear, prominent occiput, micrognathia (small lower jaw), microstomia (small mouth), clenched hands with overlapping fingers, rockerbottom feet

Answer 80

A

extra chrom 21
beta HCG, estriol, low AFP (high AFP with NT defects)
IQ of 50
60 yrs
low set ears, palpebral fissure, flat nose, hypotnic, single palm fold, protruding tongue
ASD and VSD
AML and ALL
high risk infections and AI dx
atherosclerosis
Type 1 DM, hypothyroid, infertility
early onset alzheimers (extra APP), mental retardation
Hirschsprung dx (no neuro to colon), GERD, celiac dx

Answer 81

A

47, XXY
tall w/ gynecomastia
at puberty, gonads stay small
high LH and FSH, low testosterone (absent facial and body hair)
testosterone so that secondary sex characteristics can develop

Answer 82

A

22 q 11.2
3rd and 4th pharyngeal pouch dont develop -> paraythroid and thymic aplasia
cardiac abnormalities (tetrology of fallot), adnormal face, thymic aplasia, cleft palate, hypocalcemia

Answer 83

A

deletion of genes on moms chrom 15
mental delay
hand flapping, frequent smiling and laughing

Answer 84

A

deletion on fathers chrom 15
short, hypotonia, elongated face, thin lip
hyperphagia

Answer 85

A

early is before 60
APP on chrom 21, presenilin 1 on chrom 14, and presinilen 2 on chrom 1
APOE4 allele for apolipoprotein E
neurofibrillary tangles inside neuron and amyloid beta protein outside neuron around axons and dendrites

Answer 86

A

p^2 + 2pq + q^2 = 1
frequency of dom allele
frequency of recessive allele
percentage of homo dominant
percentage of homo recessive
percentage of hetero